ClinVar for MedGen (Select 482833) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 358

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24319091.	NM_001184.4(ATR):c.2794C>A (p.Pro932Thr) GRCh37: Chr3:142272080 GRCh38: Chr3:142553238	ATR	P868T, P932T	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 16759362.	NM_001184.4(ATR):c.5078G>A (p.Ser1693Asn) GRCh37: Chr3:142224099 GRCh38: Chr3:142505257	ATR	S1629N, S1693N	not provided, Seckel syndrome 1, Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16578773.	NM_001184.4(ATR):c.7192+19A>G GRCh37: Chr3:142180763 GRCh38: Chr3:142461921	ATR		Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided	Benign/Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16578634.	NM_001184.4(ATR):c.7077A>G (p.Glu2359=) GRCh37: Chr3:142180897 GRCh38: Chr3:142462055	ATR		Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16569575.	NM_001184.4(ATR):c.1503T>A (p.Ala501=) GRCh37: Chr3:142279143 GRCh38: Chr3:142560301	ATR		Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16566176.	NM_001184.4(ATR):c.3183A>G (p.Glu1061=) GRCh37: Chr3:142266741 GRCh38: Chr3:142547899	ATR		Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16522987.	NM_001184.4(ATR):c.24G>A (p.Leu8=) GRCh37: Chr3:142297523 GRCh38: Chr3:142578681	ATR, LOC129937703		Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16391528.	NM_001184.4(ATR):c.1998A>G (p.Val666=) GRCh37: Chr3:142275305 GRCh38: Chr3:142556463	ATR		Inborn genetic diseases, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16337169.	NM_001184.4(ATR):c.7770C>T (p.Thr2590=) GRCh37: Chr3:142168436 GRCh38: Chr3:142449594	ATR		Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 163064110.	NM_001184.4(ATR):c.4950A>G (p.Ala1650=) GRCh37: Chr3:142226854 GRCh38: Chr3:142508012	ATR		Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 163039911.	NM_001184.4(ATR):c.2892G>A (p.Val964=) GRCh37: Chr3:142269058 GRCh38: Chr3:142550216	ATR		Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, not provided, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 162786112.	NM_001184.4(ATR):c.3567T>C (p.Pro1189=) GRCh37: Chr3:142259760 GRCh38: Chr3:142540918	ATR		not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1, Inborn genetic diseases	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 162570913.	NM_001184.4(ATR):c.5856C>T (p.Leu1952=) GRCh37: Chr3:142215245 GRCh38: Chr3:142496403	ATR		Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 161193614.	NM_001184.4(ATR):c.2487G>A (p.Lys829=) GRCh37: Chr3:142272712 GRCh38: Chr3:142553870	ATR		Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 160715215.	NM_001184.4(ATR):c.3513G>A (p.Arg1171=) GRCh37: Chr3:142259814 GRCh38: Chr3:142540972	ATR		Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 160358016.	NM_001184.4(ATR):c.2073T>A (p.Ile691=) GRCh37: Chr3:142275230 GRCh38: Chr3:142556388	ATR		Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 159846817.	NM_001184.4(ATR):c.7617A>G (p.Thr2539=) GRCh37: Chr3:142176484 GRCh38: Chr3:142457642	ATR		Inborn genetic diseases, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 159475318.	NM_001184.4(ATR):c.5316G>A (p.Thr1772=) GRCh37: Chr3:142218533 GRCh38: Chr3:142499691	ATR		Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 159368719.	NM_001184.4(ATR):c.6438C>T (p.Ile2146=) GRCh37: Chr3:142188293 GRCh38: Chr3:142469451	ATR		Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 159324320.	NM_001184.4(ATR):c.4314A>G (p.Pro1438=) GRCh37: Chr3:142238579 GRCh38: Chr3:142519737	ATR		Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 159317221.	NM_001184.4(ATR):c.1791A>G (p.Pro597=) GRCh37: Chr3:142277560 GRCh38: Chr3:142558718	ATR		not provided, Inborn genetic diseases, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 159310222.	NM_001184.4(ATR):c.4806G>A (p.Glu1602=) GRCh37: Chr3:142231148 GRCh38: Chr3:142512306	ATR		Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 159000823.	NM_001184.4(ATR):c.4746C>T (p.Phe1582=) GRCh37: Chr3:142231208 GRCh38: Chr3:142512366	ATR		Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 158861824.	NM_001184.4(ATR):c.177T>C (p.Thr59=) GRCh37: Chr3:142285078 GRCh38: Chr3:142566236	ATR		not provided, Inborn genetic diseases, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 158797425.	NM_001184.4(ATR):c.7482T>C (p.Asp2494=) GRCh37: Chr3:142177821 GRCh38: Chr3:142458979	ATR		Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 158712426.	NM_001184.4(ATR):c.7728A>T (p.Pro2576=) GRCh37: Chr3:142172003 GRCh38: Chr3:142453161	ATR		Inborn genetic diseases, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 158550027.	NM_001184.4(ATR):c.7425C>T (p.Asp2475=) GRCh37: Chr3:142177878 GRCh38: Chr3:142459036	ATR		Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 158453728.	NM_001184.4(ATR):c.7311T>C (p.His2437=) GRCh37: Chr3:142178107 GRCh38: Chr3:142459265	ATR		Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 158257829.	NM_001184.4(ATR):c.4809A>G (p.Lys1603=) GRCh37: Chr3:142231145 GRCh38: Chr3:142512303	ATR		not provided, Inborn genetic diseases, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 158000930.	NM_001184.4(ATR):c.2874C>T (p.Asp958=) GRCh37: Chr3:142269076 GRCh38: Chr3:142550234	ATR		Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 157378531.	NM_001184.4(ATR):c.3330G>A (p.Pro1110=) GRCh37: Chr3:142266594 GRCh38: Chr3:142547752	ATR		Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, not provided, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 156940232.	NM_001184.4(ATR):c.5851C>A (p.Arg1951=) GRCh37: Chr3:142215250 GRCh38: Chr3:142496408	ATR		Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 156912733.	NM_001184.4(ATR):c.7284C>T (p.Leu2428=) GRCh37: Chr3:142178134 GRCh38: Chr3:142459292	ATR		Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 156362634.	NM_001184.4(ATR):c.4447T>C (p.Leu1483=) GRCh37: Chr3:142234293 GRCh38: Chr3:142515451	ATR		Inborn genetic diseases, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 155966635.	NM_001184.4(ATR):c.3705C>T (p.His1235=) GRCh37: Chr3:142257344 GRCh38: Chr3:142538502	ATR		not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 155698136.	NM_001184.4(ATR):c.7005T>C (p.Asp2335=) GRCh37: Chr3:142183975 GRCh38: Chr3:142465133	ATR		Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 155595937.	NM_001184.4(ATR):c.7791G>A (p.Gln2597=) GRCh37: Chr3:142168415 GRCh38: Chr3:142449573	ATR		Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 154775438.	NM_001184.4(ATR):c.1488C>T (p.Val496=) GRCh37: Chr3:142279158 GRCh38: Chr3:142560316	ATR		Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 154305139.	NM_001184.4(ATR):c.3765A>G (p.Leu1255=) GRCh37: Chr3:142255004 GRCh38: Chr3:142536162	ATR		Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 153209840.	NM_001184.4(ATR):c.2094T>C (p.Asp698=) GRCh37: Chr3:142274966 GRCh38: Chr3:142556124	ATR		Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 152538441.	NM_001184.4(ATR):c.5145G>A (p.Leu1715=) GRCh37: Chr3:142224032 GRCh38: Chr3:142505190	ATR		Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 152076942.	NM_001184.4(ATR):c.5996A>G (p.His1999Arg) GRCh37: Chr3:142212056 GRCh38: Chr3:142493214	ATR	H1999R, H1935R	Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 151887143.	NM_001184.4(ATR):c.5947T>C (p.Cys1983Arg) GRCh37: Chr3:142212105 GRCh38: Chr3:142493263	ATR	C1983R, C1919R	Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 151833244.	NM_001184.4(ATR):c.7297C>T (p.Pro2433Ser) GRCh37: Chr3:142178121 GRCh38: Chr3:142459279	ATR	P2433S, P2369S	Inborn genetic diseases, not provided, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 151275945.	NM_001184.4(ATR):c.1966T>C (p.Tyr656His) GRCh37: Chr3:142275337 GRCh38: Chr3:142556495	ATR	Y592H, Y656H	Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 151123446.	NM_001184.4(ATR):c.3586T>G (p.Trp1196Gly) GRCh37: Chr3:142257463 GRCh38: Chr3:142538621	ATR	W1132G, W1196G	Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 150899947.	NM_001184.4(ATR):c.2130A>G (p.Ile710Met) GRCh37: Chr3:142274930 GRCh38: Chr3:142556088	ATR	I710M, I646M	Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 150692448.	NM_001184.4(ATR):c.31A>G (p.Met11Val) GRCh37: Chr3:142297516 GRCh38: Chr3:142578674	ATR, LOC129937703	M11V	not provided, Inborn genetic diseases, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 150684549.	NM_001184.4(ATR):c.3925G>A (p.Glu1309Lys) GRCh37: Chr3:142253942 GRCh38: Chr3:142535100	ATR	E1245K, E1309K	Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 150340250.	NM_001184.4(ATR):c.390A>T (p.Leu130Phe) GRCh37: Chr3:142281854 GRCh38: Chr3:142563012	ATR	L130F	not provided, Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 150319151.	NM_001184.4(ATR):c.2220C>G (p.Leu740=) GRCh37: Chr3:142274840 GRCh38: Chr3:142555998	ATR		not provided, Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 150006552.	NM_001184.4(ATR):c.1972T>C (p.Trp658Arg) GRCh37: Chr3:142275331 GRCh38: Chr3:142556489	ATR	W594R, W658R	not provided, Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149646253.	NM_001184.4(ATR):c.3340A>G (p.Ile1114Val) GRCh37: Chr3:142266584 GRCh38: Chr3:142547742	ATR	I1050V, I1114V	Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149499454.	NM_001184.4(ATR):c.4639G>A (p.Glu1547Lys) GRCh37: Chr3:142232345 GRCh38: Chr3:142513503	ATR	E1483K, E1547K	not provided, Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148614055.	NM_001184.4(ATR):c.10C>T (p.His4Tyr) GRCh37: Chr3:142297537 GRCh38: Chr3:142578695	ATR	H4Y	not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148222156.	NM_001184.4(ATR):c.590T>C (p.Met197Thr) GRCh37: Chr3:142281654 GRCh38: Chr3:142562812	ATR	M197T	not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148184357.	NM_001184.4(ATR):c.139G>C (p.Asp47His) GRCh37: Chr3:142286917 GRCh38: Chr3:142568075	ATR	D47H	not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148181858.	NM_001184.4(ATR):c.3275A>G (p.Asn1092Ser) GRCh37: Chr3:142266649 GRCh38: Chr3:142547807	ATR	N1092S, N1028S	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, not provided, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 147631459.	NM_001184.4(ATR):c.2158G>A (p.Gly720Ser) GRCh37: Chr3:142274902 GRCh38: Chr3:142556060	ATR	G720S, G656S	not provided, Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 147610560.	NM_001184.4(ATR):c.943C>G (p.Pro315Ala) GRCh37: Chr3:142281301 GRCh38: Chr3:142562459	ATR	P315A	not provided, Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 147577961.	NM_001184.4(ATR):c.847A>C (p.Met283Leu) GRCh37: Chr3:142281397 GRCh38: Chr3:142562555	ATR	M283L	not provided, Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 146806662.	NM_001184.4(ATR):c.7780G>C (p.Asp2594His) GRCh37: Chr3:142168426 GRCh38: Chr3:142449584	ATR	D2594H, D2530H	not provided, Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 146509363.	NM_001184.4(ATR):c.2360A>G (p.His787Arg) GRCh37: Chr3:142272839 GRCh38: Chr3:142553997	ATR	H723R, H787R	Seckel syndrome 1, Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 146354764.	NM_001184.4(ATR):c.671G>A (p.Arg224Lys) GRCh37: Chr3:142281573 GRCh38: Chr3:142562731	ATR	R224K	Seckel syndrome 1, Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 145008165.	NM_001184.4(ATR):c.6341A>G (p.Gln2114Arg) GRCh37: Chr3:142188390 GRCh38: Chr3:142469548	ATR	Q2050R, Q2114R	Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144988066.	NM_001184.4(ATR):c.4348G>A (p.Val1450Ile) GRCh37: Chr3:142238545 GRCh38: Chr3:142519703	ATR	V1386I, V1450I	Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144906767.	NM_001184.4(ATR):c.4855T>C (p.Ser1619Pro) GRCh37: Chr3:142226949 GRCh38: Chr3:142508107	ATR	S1619P, S1555P	not provided, Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144838768.	NM_001184.4(ATR):c.7487A>G (p.Asn2496Ser) GRCh37: Chr3:142177816 GRCh38: Chr3:142458974	ATR	N2496S, N2432S	Inborn genetic diseases, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144812969.	NM_001184.4(ATR):c.3955A>G (p.Ile1319Val) GRCh37: Chr3:142243032 GRCh38: Chr3:142524190	ATR	I1255V, I1319V	Inborn genetic diseases, not provided, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144775170.	NM_001184.4(ATR):c.647T>C (p.Ile216Thr) GRCh37: Chr3:142281597 GRCh38: Chr3:142562755	ATR	I216T	Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144359771.	NM_001184.4(ATR):c.3458A>G (p.Asn1153Ser) GRCh37: Chr3:142259869 GRCh38: Chr3:142541027	ATR	N1153S, N1089S	Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1, not provided	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144233372.	NM_001184.4(ATR):c.6635T>C (p.Val2212Ala) GRCh37: Chr3:142186828 GRCh38: Chr3:142467986	ATR	V2148A, V2212A	Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1, not provided	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144190873.	NM_001184.4(ATR):c.2681A>G (p.His894Arg) GRCh37: Chr3:142272193 GRCh38: Chr3:142553351	ATR	H830R, H894R	Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Inborn genetic diseases	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144156074.	NM_001184.4(ATR):c.2403T>A (p.Asp801Glu) GRCh37: Chr3:142272796 GRCh38: Chr3:142553954	ATR	D737E, D801E	Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1, not provided	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144155475.	NM_001184.4(ATR):c.4035T>A (p.Asp1345Glu) GRCh37: Chr3:142242952 GRCh38: Chr3:142524110	ATR	D1345E, D1281E	Seckel syndrome 1, See cases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 143985576.	NM_001184.4(ATR):c.1678G>C (p.Glu560Gln) GRCh37: Chr3:142278147 GRCh38: Chr3:142559305	ATR	E496Q, E560Q	Inborn genetic diseases, Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 143755577.	NM_001184.4(ATR):c.3584C>T (p.Ala1195Val) GRCh37: Chr3:142257465 GRCh38: Chr3:142538623	ATR	A1195V, A1131V	Inborn genetic diseases, Seckel syndrome 1, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 143752978.	NM_001184.4(ATR):c.3524T>C (p.Met1175Thr) GRCh37: Chr3:142259803 GRCh38: Chr3:142540961	ATR	M1111T, M1175T	Inborn genetic diseases, Seckel syndrome 1, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 143736479.	NM_001184.4(ATR):c.967G>C (p.Glu323Gln) GRCh37: Chr3:142281277 GRCh38: Chr3:142562435	ATR	E323Q	Inborn genetic diseases, Seckel syndrome 1, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 142974480.	NM_001184.4(ATR):c.1142A>T (p.Asp381Val) GRCh37: Chr3:142281102 GRCh38: Chr3:142562260	ATR	D381V	Inborn genetic diseases, Seckel syndrome 1, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 142658281.	NM_001184.4(ATR):c.4301A>C (p.Glu1434Ala) GRCh37: Chr3:142238592 GRCh38: Chr3:142519750	ATR	E1370A, E1434A	Inborn genetic diseases, Seckel syndrome 1, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 142637082.	NM_001184.4(ATR):c.5733C>A (p.Asn1911Lys) GRCh37: Chr3:142215860 GRCh38: Chr3:142497018	ATR	N1847K, N1911K	Inborn genetic diseases, Seckel syndrome 1, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 142293783.	NM_001184.4(ATR):c.5852G>A (p.Arg1951Gln) GRCh37: Chr3:142215249 GRCh38: Chr3:142496407	ATR	R1887Q, R1951Q	Inborn genetic diseases, Seckel syndrome 1, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 142204384.	NM_001184.4(ATR):c.1165G>A (p.Ala389Thr) GRCh37: Chr3:142281079 GRCh38: Chr3:142562237	ATR	A389T	Seckel syndrome 1, Inborn genetic diseases, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Sep 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 142180085.	NM_001184.4(ATR):c.1810G>C (p.Asp604His) GRCh37: Chr3:142277541 GRCh38: Chr3:142558699	ATR	D604H, D540H	Inborn genetic diseases, Seckel syndrome 1, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 142141586.	NM_001184.4(ATR):c.2684G>A (p.Cys895Tyr) GRCh37: Chr3:142272190 GRCh38: Chr3:142553348	ATR	C831Y, C895Y	Inborn genetic diseases, Seckel syndrome 1, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 142095287.	NM_001184.4(ATR):c.3727G>T (p.Asp1243Tyr) GRCh37: Chr3:142255042 GRCh38: Chr3:142536200	ATR	D1243Y, D1179Y	Inborn genetic diseases, Seckel syndrome 1, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 142069988.	NM_001184.4(ATR):c.1975G>A (p.Ala659Thr) GRCh37: Chr3:142275328 GRCh38: Chr3:142556486	ATR	A659T, A595T	Inborn genetic diseases, Seckel syndrome 1, not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 141482989.	NM_001184.4(ATR):c.1368G>A (p.Met456Ile) GRCh37: Chr3:142279278 GRCh38: Chr3:142560436	ATR	M456I	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, Seckel syndrome 1, not provided	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 141464790.	NM_001184.4(ATR):c.3193G>A (p.Gly1065Arg) GRCh37: Chr3:142266731 GRCh38: Chr3:142547889	ATR	G1001R, G1065R	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, Seckel syndrome 1, not provided	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 141158591.	NM_001184.4(ATR):c.1803C>G (p.Ser601=) GRCh37: Chr3:142277548 GRCh38: Chr3:142558706	ATR		not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, Seckel syndrome 1	Likely benign (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 141142592.	NM_001184.4(ATR):c.121A>G (p.Ile41Val) GRCh37: Chr3:142286935 GRCh38: Chr3:142568093	ATR	I41V	not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 140964693.	NM_001184.4(ATR):c.3559G>T (p.Asp1187Tyr) GRCh37: Chr3:142259768 GRCh38: Chr3:142540926	ATR	D1123Y, D1187Y	not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Inborn genetic diseases, Seckel syndrome 1	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 140446694.	NM_001184.4(ATR):c.1877A>G (p.Asp626Gly) GRCh37: Chr3:142277474 GRCh38: Chr3:142558632	ATR	D626G, D562G	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Seckel syndrome 1, Inborn genetic diseases	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 140220595.	NM_001184.4(ATR):c.109C>A (p.Leu37Met) GRCh37: Chr3:142286947 GRCh38: Chr3:142568105	ATR	L37M	not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1, Inborn genetic diseases	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 139905496.	NM_001184.4(ATR):c.4057C>A (p.Leu1353Ile) GRCh37: Chr3:142242930 GRCh38: Chr3:142524088	ATR	L1289I, L1353I	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Seckel syndrome 1, Inborn genetic diseases	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 139874597.	NM_001184.4(ATR):c.6976T>C (p.Cys2326Arg) GRCh37: Chr3:142184004 GRCh38: Chr3:142465162	ATR	C2262R, C2326R	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Seckel syndrome 1, Inborn genetic diseases	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 139691698.	NM_001184.4(ATR):c.4544G>A (p.Ser1515Asn) GRCh37: Chr3:142232440 GRCh38: Chr3:142513598	ATR	S1451N, S1515N	not provided, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1, Inborn genetic diseases	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 139484199.	NM_001184.4(ATR):c.1258C>G (p.Leu420Val) GRCh37: Chr3:142280176 GRCh38: Chr3:142561334	ATR	L420V	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Seckel syndrome 1, Inborn genetic diseases, not provided	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1386301100.	NM_001184.4(ATR):c.5857G>A (p.Ala1953Thr) GRCh37: Chr3:142215244 GRCh38: Chr3:142496402	ATR	A1953T, A1889T	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, not provided, Seckel syndrome 1, Inborn genetic diseases	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts

<< First< Prev

Page of 4